Appointment with the Geneticist

August 8, 2013

Last week we went to visit Grayden's Geneticist Doctor for the first time.  We came there very hopeful to have a lot of our questions answered that day.  This clinic is for kids that have all different types of chromosomal abnormalities like fragile X, chromosomal deletions, translocations, duplications and down syndrome.  The waiting room was filled with so many kids and parents that have a child with special needs.  As we sat there in apprehension, it was actually a good feeling to be in the same room with other parents who have a similar journey as us and that we are not alone.  

The first part of the appointment was filled with tons and tons of questions from my pregnancy background, our immediate family background and our health history.  Then Grayden was evaulated by the doctors assistant from head to toe, checking for distinct characteristics of a child that has a chromosomal abnormality like extra long fingers, flat bridged nose, webbed feet, extra fingers, curved feet, and other things that I don't know of.  His muscle stregnth, cognition, head control, and tracking were also evaulated.  The assistant wrote down all this information and we then waited for the Doctor to come in. 

 Dr. Byrd began by explaining how the translocation and deletion happened.  The chromomsomes are formed at the very beginning of fertilization where the sperm and egg meet.  When this happened a piece of number 2 went missing.  She informed us that if there was only the translocation, 90% of the time, a person will be normal and functioniong but since he has a small deletion on his 2nd chromosmome this can be a cause of developmental problems.   There are several genes involved that he is missing from his deletion.  One of which is where he could have severe epilepsy now or later in life.  The others are still being studied.  Because of the rarity of his deletion they cannot say how Grayden's life will be in his future.  If he is in fact wanting children the odds are against him.  Because of his genetic makeup his children have a huge chance of having severe mental retardation.  She did say however  that there is no doubt in her mind that he will walk one day. We were so happy to hear that!
Overall, we didn't get all the questions answered we were hoping to hear. But,
with that being said, Grayden will show us the way of how everything is destined to come about.  It will be Grayden's Way.

Grayden during therapy with his therapists Rachel and Melissa.  They are wonderful!